Mutagenetix > Incidental Mutation

Incidental Mutation 'R9046:Rubcn'

688072

Institutional Source

Beutler Lab

Gene Symbol

Rubcn

Ensembl Gene

ENSMUSG00000035629

Gene Name

RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein

Synonyms

1700021K19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R9046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32642072-32698121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32661940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 427 (N427D)

Ref Sequence

ENSEMBL: ENSMUSP00000087114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040986] [ENSMUST00000089684] [ENSMUST00000115105] [ENSMUST00000119810] [ENSMUST00000231478] [ENSMUST00000232269]

AlphaFold

Q80U62

Predicted Effect

probably benign
Transcript: ENSMUST00000040986

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	339	371	N/A	INTRINSIC
Blast:DUF4206	469	687	1e-66	BLAST
DUF4206	706	908	1.66e-113	SMART
low complexity region	915	941	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089684
AA Change: N427D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: N427D

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	339	371	N/A	INTRINSIC
Blast:DUF4206	484	702	1e-66	BLAST
DUF4206	721	923	1.66e-113	SMART
low complexity region	930	956	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115105

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	340	357	N/A	INTRINSIC
Blast:DUF4206	455	673	1e-66	BLAST
DUF4206	692	894	1.66e-113	SMART
low complexity region	901	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119810

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629

Domain	Start	End	E-Value	Type
RUN	62	122	1.67e-15	SMART
low complexity region	169	193	N/A	INTRINSIC
low complexity region	278	310	N/A	INTRINSIC
Blast:DUF4206	408	626	6e-67	BLAST
DUF4206	645	847	1.66e-113	SMART
low complexity region	854	880	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231478
AA Change: N427D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232269

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,525 (GRCm39)	V1796A	probably benign	Het
Abca3	A	G	17: 24,617,477 (GRCm39)	D1058G	probably damaging	Het
Adgrg6	A	G	10: 14,323,858 (GRCm39)	V431A	probably benign	Het
Amdhd1	C	T	10: 93,363,087 (GRCm39)	D334N	probably damaging	Het
Ankrd50	A	T	3: 38,506,642 (GRCm39)	M252K	probably benign	Het
Anxa3	G	A	5: 96,976,626 (GRCm39)	R204Q	probably damaging	Het
Apmap	T	C	2: 150,426,093 (GRCm39)	T352A	probably benign	Het
Arhgef4	A	G	1: 34,850,846 (GRCm39)	E464G	possibly damaging	Het
Atp11b	T	A	3: 35,852,740 (GRCm39)		probably benign	Het
Brwd1	T	A	16: 95,829,402 (GRCm39)	S1100C	probably damaging	Het
Ccm2l	T	A	2: 152,916,720 (GRCm39)	I317N	probably damaging	Het
Ccr9	C	T	9: 123,608,831 (GRCm39)	T171I	probably benign	Het
Cdh23	A	T	10: 60,218,303 (GRCm39)		probably benign	Het
Dact1	A	G	12: 71,365,534 (GRCm39)	I735V	probably benign	Het
Dok6	C	A	18: 89,787,221 (GRCm39)	V14L	probably benign	Het
Dthd1	A	T	5: 62,984,603 (GRCm39)	Y436F	possibly damaging	Het
Fndc9	G	T	11: 46,128,889 (GRCm39)	W136L	probably damaging	Het
Gal3st1	G	A	11: 3,948,278 (GRCm39)	V162I	probably benign	Het
Gart	A	G	16: 91,418,561 (GRCm39)	S973P	probably damaging	Het
H2-T5	A	T	17: 36,476,035 (GRCm39)		probably null	Het
Hsp90ab1	G	A	17: 45,879,969 (GRCm39)	P516S	probably damaging	Het
Htr1a	G	C	13: 105,581,816 (GRCm39)	G352A	probably damaging	Het
Hycc2	T	C	1: 58,568,945 (GRCm39)	T545A	probably damaging	Het
Isg20	A	T	7: 78,569,823 (GRCm39)	R265*	probably null	Het
Kcmf1	C	T	6: 72,825,455 (GRCm39)	A213T	probably damaging	Het
Kdm3a	A	G	6: 71,572,540 (GRCm39)	V1007A	probably damaging	Het
Klhl25	A	G	7: 75,515,337 (GRCm39)	E81G	probably damaging	Het
Klhl6	C	A	16: 19,765,803 (GRCm39)	V600F	probably damaging	Het
Kmt2b	A	G	7: 30,285,479 (GRCm39)	V471A	probably benign	Het
Lap3	A	G	5: 45,652,562 (GRCm39)	T53A	probably damaging	Het
Lmntd1	A	T	6: 145,365,565 (GRCm39)	I188N	probably damaging	Het
Lrba	A	G	3: 86,302,543 (GRCm39)	I1868V	possibly damaging	Het
Mef2d	A	T	3: 88,074,825 (GRCm39)	Y337F	probably benign	Het
Mgat4e	T	C	1: 134,474,742 (GRCm39)	T7A	possibly damaging	Het
Myo3a	G	T	2: 22,448,367 (GRCm39)	L985F	probably damaging	Het
Myof	T	C	19: 37,923,112 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,376,145 (GRCm39)	G77S	probably benign	Het
Nostrin	G	T	2: 68,975,123 (GRCm39)	V13L	probably benign	Het
Nup155	TGGG	TGG	15: 8,157,919 (GRCm39)		probably null	Het
Or14j6	A	G	17: 38,215,145 (GRCm39)	K236R	probably damaging	Het
Or3a10	T	C	11: 73,935,284 (GRCm39)	D272G	probably damaging	Het
Or4a75	C	T	2: 89,448,496 (GRCm39)		probably benign	Het
Or5b101	T	C	19: 13,005,115 (GRCm39)	N193D	probably benign	Het
Parp4	A	C	14: 56,864,927 (GRCm39)	K1025T	probably damaging	Het
Parvb	T	C	15: 84,174,639 (GRCm39)	I144T	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,160 (GRCm39)	V195A	probably damaging	Het
Prpf18	A	T	2: 4,640,464 (GRCm39)	M257K	possibly damaging	Het
Ptcd3	A	T	6: 71,870,364 (GRCm39)		probably null	Het
Ptprt	G	A	2: 161,372,361 (GRCm39)	T1437M	possibly damaging	Het
Ptx3	T	C	3: 66,132,153 (GRCm39)	F225L	probably damaging	Het
Rpl3l	A	G	17: 24,947,435 (GRCm39)	K50E	probably damaging	Het
Serpinb8	G	A	1: 107,530,563 (GRCm39)	A114T	possibly damaging	Het
Sgsm1	A	G	5: 113,436,725 (GRCm39)	V35A	probably damaging	Het
Slc22a2	G	A	17: 12,834,234 (GRCm39)	A501T	probably null	Het
Slu7	G	A	11: 43,335,629 (GRCm39)	C455Y	probably damaging	Het
Src	C	A	2: 157,307,795 (GRCm39)	H235N	probably damaging	Het
Svopl	T	A	6: 37,998,531 (GRCm39)	M248L	probably benign	Het
Tbx6	G	A	7: 126,381,120 (GRCm39)		probably null	Het
Tprg1l	A	T	4: 154,242,913 (GRCm39)	I239N	probably damaging	Het
Trafd1	A	G	5: 121,513,189 (GRCm39)	F350L	probably benign	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r46	T	C	6: 89,953,585 (GRCm39)	S145P	probably damaging	Het
Vmn2r11	A	T	5: 109,202,850 (GRCm39)	F76I	probably benign	Het
Xpot	A	T	10: 121,432,149 (GRCm39)	C916*	probably null	Het
Zfp236	C	T	18: 82,637,042 (GRCm39)	E1415K	possibly damaging	Het

Other mutations in Rubcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rubcn	APN	16	32,644,747 (GRCm39)	critical splice donor site	probably null
IGL00777:Rubcn	APN	16	32,656,933 (GRCm39)	missense	probably damaging	0.98
IGL01402:Rubcn	APN	16	32,647,666 (GRCm39)	missense	probably damaging	1.00
IGL01404:Rubcn	APN	16	32,647,666 (GRCm39)	missense	probably damaging	1.00
IGL02255:Rubcn	APN	16	32,647,715 (GRCm39)	missense	probably benign	0.04
IGL03019:Rubcn	APN	16	32,647,077 (GRCm39)	missense	probably damaging	0.98
IGL03388:Rubcn	APN	16	32,661,938 (GRCm39)	missense	probably benign	0.02
R0254:Rubcn	UTSW	16	32,668,316 (GRCm39)	missense	probably benign	0.00
R0373:Rubcn	UTSW	16	32,656,350 (GRCm39)	missense	probably damaging	1.00
R0636:Rubcn	UTSW	16	32,649,056 (GRCm39)	missense	probably damaging	1.00
R0839:Rubcn	UTSW	16	32,647,713 (GRCm39)	missense	probably damaging	0.98
R0967:Rubcn	UTSW	16	32,646,087 (GRCm39)	missense	probably benign	0.00
R1711:Rubcn	UTSW	16	32,663,471 (GRCm39)	missense	probably damaging	1.00
R1819:Rubcn	UTSW	16	32,647,284 (GRCm39)	missense	possibly damaging	0.93
R1840:Rubcn	UTSW	16	32,646,542 (GRCm39)	missense	possibly damaging	0.83
R2511:Rubcn	UTSW	16	32,667,624 (GRCm39)	missense	probably damaging	1.00
R3932:Rubcn	UTSW	16	32,649,629 (GRCm39)	splice site	probably null
R3933:Rubcn	UTSW	16	32,649,629 (GRCm39)	splice site	probably null
R4384:Rubcn	UTSW	16	32,677,272 (GRCm39)	missense	probably damaging	0.96
R4788:Rubcn	UTSW	16	32,656,778 (GRCm39)	critical splice donor site	probably null
R4852:Rubcn	UTSW	16	32,663,678 (GRCm39)	missense	probably damaging	1.00
R4921:Rubcn	UTSW	16	32,667,664 (GRCm39)	missense	probably damaging	1.00
R4950:Rubcn	UTSW	16	32,663,563 (GRCm39)	missense	probably damaging	1.00
R5234:Rubcn	UTSW	16	32,656,828 (GRCm39)	missense	probably damaging	1.00
R5527:Rubcn	UTSW	16	32,647,081 (GRCm39)	missense	probably damaging	1.00
R5616:Rubcn	UTSW	16	32,647,293 (GRCm39)	missense	possibly damaging	0.76
R5823:Rubcn	UTSW	16	32,670,091 (GRCm39)	missense	probably damaging	0.98
R6970:Rubcn	UTSW	16	32,688,514 (GRCm39)	intron	probably benign
R7120:Rubcn	UTSW	16	32,656,839 (GRCm39)	missense	probably damaging	1.00
R7121:Rubcn	UTSW	16	32,656,839 (GRCm39)	missense	probably damaging	1.00
R7221:Rubcn	UTSW	16	32,687,293 (GRCm39)	splice site	probably null
R7833:Rubcn	UTSW	16	32,688,644 (GRCm39)	start gained	probably benign
R8108:Rubcn	UTSW	16	32,677,320 (GRCm39)	missense	probably damaging	1.00
R8211:Rubcn	UTSW	16	32,656,913 (GRCm39)	missense	possibly damaging	0.87
R8923:Rubcn	UTSW	16	32,646,049 (GRCm39)	missense	probably damaging	1.00
R9587:Rubcn	UTSW	16	32,663,679 (GRCm39)	missense	probably damaging	1.00
R9694:Rubcn	UTSW	16	32,663,481 (GRCm39)	missense	probably benign	0.22
X0065:Rubcn	UTSW	16	32,668,355 (GRCm39)	missense	possibly damaging	0.85
Z1176:Rubcn	UTSW	16	32,663,533 (GRCm39)	missense	probably benign	0.00
Z1177:Rubcn	UTSW	16	32,645,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGTTTAGGGCACAACAC -3'
(R):5'- TAGCTGCTTGTCCGAGTTAC -3'

Sequencing Primer
(F):5'- GCATGTTTAGGGCACAACACGTATC -3'
(R):5'- GTCCGAGTTACCCCTCCTTCAG -3'

Posted On

2021-11-19